Literature DB >> 10955482

Tibial aplasia--VACTERL association, a new syndrome?

D Basel1, J Goldblatt.   

Abstract

We report on a male infant, born to nonconsanguineous parents, with a vertebral anomaly, cardiac defect, tracheo-oesophageal fistula and hypospadias (VACTERL association) together with bilateral tibial aplasia. This pattern of abnormalities appears to represent a unique syndrome.

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Year:  2000        PMID： 10955482     DOI： 10.1097/00019605-200009030-00010

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


  2 in total

Review 1.  Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology.

Authors:  C Shaw-Smith
Journal:  J Med Genet       Date:  2005-11-18       Impact factor: 6.318

2.  A novel malformation complex of bilateral and symmetric preaxial radial ray-thumb aplasia and lower limb defects with minimal facial dysmorphic features: a case report and literature review.

Authors:  Ali Al Kaissi; Klaus Klaushofer; Alexander Krebs; Franz Grill
Journal:  Cases J       Date:  2008-10-24
  2 in total

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